Mechanisms of Disease: Genetic disorders of renal electrolyte transport

New England Journal of Medicine

Volumn 340, Issue 15, 1999, Pages 1177-1187

  Scheinman, Steven J ^a   Guay Woodford, Lisa M ^b   Thakker, Rajesh V ^b   Warnock, David G ^b  

^a State University of New York Upstate Medical University: College of Medicine   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; CARBONATE DEHYDRATASE II; GLUCOSE TRANSPORTER; GUANINE NUCLEOTIDE BINDING PROTEIN; VASOPRESSIN RECEPTOR; XANTHINE OXIDASE; CALCIUM BINDING PROTEIN; CARRIER PROTEIN; CHLORIDE CHANNEL; ELECTROLYTE; MAGNESIUM; SODIUM CHANNEL;

BARTTER SYNDROME; CHLORIDE TRANSPORT; ELECTROLYTE METABOLISM; ELECTROLYTE TRANSPORT; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GITELMAN SYNDROME; GLUCOSE TRANSPORT; HUMAN; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE DISORDER; LIDDLE SYNDROME; MAGNESIUM EXCRETION; PATHOPHYSIOLOGY; PHOSPHATE TRANSPORT; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; REVIEW; SODIUM TRANSPORT; VITAMIN D RESISTANT RICKETS; ACTIVE TRANSPORT; ALKALOSIS; GENETICS; HYPOKALEMIA; HYPOPHOSPHATEMIA; KIDNEY DISEASE; KIDNEY TUBULE; METABOLISM; MUTATION; SYNDROME; URINE; UROLITHIASIS;

ALKALOSIS; BIOLOGICAL TRANSPORT, ACTIVE; CALCIUM-BINDING PROTEINS; CARRIER PROTEINS; CHLORIDE CHANNELS; ELECTROLYTES; HUMANS; HYPOKALEMIA; HYPOPHOSPHATEMIA, FAMILIAL; KIDNEY DISEASES; KIDNEY TUBULES; MAGNESIUM; MUTATION; PSEUDOHYPOALDOSTERONISM; SODIUM CHANNELS; SYNDROME; URINARY CALCULI;

EID: 0033560346     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199904153401507     Document Type: Review

References (66)

1. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 10th ed. Baltimore: Johns Hopkins University Press, 1992.
2. Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians 1963;76:199-213.
3. Botero-Velez M, Curtis JJ, Warnock DG. Liddle's syndrome revisited -a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994; 330:178-81.
4. Warnock DG. Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 1998;53:18-24.
5. Rossier BC. 1996 Homer Smith Award Lecture: cum grano salis: the epithelial sodium channel and the control of blood pressure. J Am Soc Nephrol 1997;8:980-92.
6. B. Shimkets RA, Warnock DG, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994;79:407-14.
7. Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 1996;15:2381-7.
8. Staub O, Dho S, Henry P, et al. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. EMBO J 1996;15:2371-80.
9. Snyder PM, Price MP, McDonald FJ, et al. Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. Cell 1995;83:969-78.
10. Firsov D, Schild L, Gautschi I, Merillat AM, Schneeberger E, Rossier BC. Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci U S A 1996;93:15370-5.
11. Su YR, Rutkowski MP, Klanke CA, et al. A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996;7:2543-9.
12. Baker EH, Dong YB, Sagnella GA, et al. Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London. Lancet 1998;351:1388-92.
13. Oberfield SE, Levine LS, Carey RM, Bejar R, New MI. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J Clin Endocrinol Metab 1979;48:228-34.
14. Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr 1994; 125:752-5.
15. Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996;12:248-53.
16. Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996;13:248-50.
17. Hummler E, Barker P, Gatzy J, et al. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet 1996; 12:325-8.
18. Hummler E, Barker P, Talbot C, et al. A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism. Proc Natl Acad Sci U S A 1997;94:11710-5.
19. Geller DS, Rodriguez-Soriano J, Vallo Boado A, et al. Mutations in the mincralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19:279-81.
20. Bartter FC, Pronove P, Gill J Jr, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 1962;33:811-28.
21. Guay-Woodford LM. Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med 1998;105:151-61.
22. Schwartz ID, Alon US. Bartter syndrome revisited. J Nephrol 1996;9: 81-7.
23. Jamison RL, Ross JC, Kempson RL, Sufit CR, Parker TE. Surreptitious diuretic ingestion and pseudo-Bartter's syndrome. Am J Med 1982; 73:142-7.
24. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996;13: 183-8.
25. Simon DB, Karet FE, Rodriguez-Soriano J, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996;14:152-6.
26. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997;17:171-8.
27. The International Collaborative Study Group for Bartter-like Syndromes. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997;6:17-26. [Erratum, Hum Mol Genet 1997;6:650.]
28. Vargas R, Feldmann D, Vollmer M, et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 1998;62:1332-40.
29. Hebert SC, Brown EM, Harris HW. Role of the Ca(2+)-sensing receptor in divalent mineral ion homeostasis. J Exp Biol 1997;200:295-302.
30. Greger R. Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian ncphron. Physiol Rev 1985;65:760-97.
31. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966;79:221-35.
32. Sutton RA, Mavichak V, Halabe A, Wilkins GE. Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 1992;18:43-51.
33. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996;12:24-30.
34. Lemmink HH, Knoers NV, Karolyi L, et al. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 1998;54:720-30.
35. Pollak MR, Delaney VB, Graham RM, Hebert SC. Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol 1996; 7:2244-8.
36. Friedman PA. Codependence of renal calcium and sodium transport. Annu Rev Physiol 1998;60:179-97.
37. Quamme GA. Renal magnesium handling: new insights in understanding old problems. Kidney Int 1997;52:1180-95.
38. Simon DB, Al-Sabban E, Lu Y, et al. The molecular basis of renal magnesium wasting: familial hypomagnesemia with nephrocalcinosis. J Am Soc Nephrol 1998;9:559A. abstract.
39. Dai LJ, Ritchie G, Bapty B, Quamme GA. Aldosterone potentiates hormone-stimulated Mg2+ uptake in distal convoluted tubule cells. Am J Physiol 1998;274:F336-F341.
40. Dai LJ, Friedman PA, Quamme GA. Cellular mechanisms of chlorothiazide and cellular potassium depletion on Mg2+ uptake in mouse distal convoluted tubule cells. Kidney Int 1997;51:1008-17.
41. Foley TP Jr, Harrison HC, Arnaud CD, Harrison HE. Familial benign hypercalcemia. J Pediatr 1972;81:1060-7.
42. Pearce SHS, Trump D, Wooding C, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995;96:2683-92.
43. Brown EM, Gamba G, Riccardi D, et al. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 1993;366:575-80.
44. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993;75:1297-303.
45. Pearce SH, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996;98:1860-6.
46. Pearce SHS, Williamson C, Kifor O, et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996;335:1115-22.
47. Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998;53:3-17.
48. Igarashi T, Hayakawa H, Shiraga H, et al. Hypercalciuria and nephrocaicinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? Nephron 1995;69:242-7.
49. Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET. X-linked recessive nephrolithiasis with renal failure. N Engl J Med 1991;325:681-6.
50. Wrong O, Norden AGW, Feest TG. Dent's disease: a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure, and a marked male predominance. QJM 1994;87:473-93.
51. Reinhart SC, Norden AGW, Lapsley M, et al. Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol 1995;5:1451-61.
52. Buckalew VM Jr, Purvis ML, Shulman MG, Herndon CN, Rudman D. Hereditary renal tubular acidosis: report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria. Medicine (Baltimore) 1974;53:229-54.
53. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 1993;91:2351-7.
54. Lloyd SE, Pearce SHS, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996;379:445-9.
55. Hoopes RR Jr, Hueber PA, Reid RJ Jr, et al. CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. Kidney Int 1998;54:698-705.
56. Igarashi T, Gunther W, Sekine T, et al. Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's disease. Kidney Int 1998;54:1850-6.
57. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Intrarenal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 1999;8:247-57.
58. Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. Am J Dis Child 1937;54:529-47.
59. Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH. A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature: 1958. Medicine (Baltimore) 1991;70: 215-7.
60. The HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130-6.
61. Dixon PH, Christie PT, Wooding C, et al. Mutational analysis of the PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 1998;83:3615-23.
62. Lipman ML, Panda D, Bennett HP, et al. Cloning of human PEX cDNA: expression, subcellular localization, and endopeptidase activity. J Biol Chem 1998;273:13729-37.
63. Econs MJ, Drezner MK. Tumor-induced osteomalacia - unveiling a new hormone. N Engl J Med 1994;330:1679-81.
64. Cai Q, Hodgson SF, Kao PC, et al. Inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. N Engl J Med 1994;330:1645-9.
65. Tieder M, Modai D, Samuel R, et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985;312:611-7.
66. Tieder M, Modai D, Shaked U, et al. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets: two phenotypical expressions of a common genetic defect. N Engl J Med 1987;316:125-9.